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Por favor, use este identificador para citar o enlazar este documento: https://ria.asturias.es/RIA/handle/123456789/703
Título : Analysis of the micro-RNA-133 and PITX3 genes in Parkinson´s Disease
Autor : Coto García, Eliecer
Cardo, Lucía F.
Díaz, Marta
Blázquez, Marta
Ribacoba, René
Salvador, Carlos
Pastor, Pau
Samaranch, Lluis
Morís, Germán
Menéndez, Manuel
Corao, Ana I.
Álvarez, Victoria
Palabras clave : Parkinson's disease
Micro RNAs
DNA polymorphisms
Genetic risk
Fecha de publicación : 2010
Resumen : MicroRNAs are small RNA sequences that negatively regulate gene expression by binding to the 3´ untranslated regions of mRNAs. MiR-133b has been implicated in Parkinson´s Disease (PD) by a mechanism that involves the regulation of the transcription factor PITX3. The variation in these genes could contribute to the risk of developing PD. We searched for DNA variants in miR-133 and PITX3 genes in PD patients and healthy controls from Spain. We found common DNA variants in the three miR-133 genes. Genotyping of a first set of patients (n=777) and controls (n=650) showed a higher frequency of homozygous for a miR-133b variant (-90 del A) in PD-patients (6/575; 1%) than in healthy controls (0/650) (p=0.03). However, this association was not confirmed in a second set of patients (1/250; 0.4%) and controls (2/210; 1%). No common PITX3 variants were associated with PD, although a rare missense change (G32S) was found in only one patient and none of the controls. In conclusion, we report the variation in genes of a pathway that has been involved in dopaminergic neuron differentiation and survival. Our work suggests that miR-133 and PITX3 gene variants did not contribute to the risk for PD.
URI : https://ria.asturias.es/RIA/handle/123456789/703
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